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Wagner Disease

Wagner Syndrome


Presentation

  • Genetic mapping presented here in two further families reduces the critical region to approximately 2 cM.[ncbi.nlm.nih.gov]
  • Notice the large positive angle kappa that was present. Present visual acuity is no light perception OD and 6/6 OS. The patient demonstrated a large positive angle kappa by fixation OS.[healio.com]
  • Versican is a substance present in the vitreous body of the eye. Symptoms and signs include changes in the vitreous body of the eye, retinal detachment , cataracts , and poor visual adaptation to dark.[medicinenet.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The patient presented with mild visual acuity decrease and nyctalopia. Observation revealed low myopia and mild cortical cataracts.[aao.org]
Movement Disorder
  • This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.[books.google.com]
Gagging
  • The central domain of versican V0 contains both the GAG -α and GAG -β domains. V1 isoforms has the GAG -β domain, V2 has the GAG -α domain, and V3 is void of any GAG attachment domains.[flipper.diff.org]
  • Depending on inclusion of exon 7 and 8 versican exists in 4 different isoforms, hence yielding varying numbers of attached glycosamino glycan (GAG) residues (three relevant variants are depicted below).[medmolgen.uzh.ch]
  • The GAG attachment sites on exons 7 and 8 are indicated. At the right, the relative expression levels of different isoforms are shown for normal individuals versus patients with Wagner disease.[iovs.arvojournals.org]
  • This may result in severe reduction of GAG modification, which will render the physical properties of the vitreous, leading to a process of premature liquefaction.[ncbi.nlm.nih.gov]
Periodontitis
  • Periodontal disease forms just below the gum line and creates small pockets that separate the gums from the teeth. Periodontal disease has two stages: gingivitis and periodontitis.[wagnerfamilydds.com]
  • Symptoms of periodontal disease include bad breath, red and tender gums, receding gums, pain when eating, and loose or sensitive teeth.[wagner.buchefoods.com]
Hyperpigmentation
  • Wagner disease - progressive liquefaction and destruction of the vitreous humor with grayish-white preretinal membranes, myopia, cataract, retinal detachment, and hyperpigmentation and hypopigmentation.[medical-dictionary.thefreedictionary.com]
  • Affected individuals show the following findings that seem to progress more slowly than those of VCAN -related vitreoretinopathy: Fibrillar condensation of the vitreous, but not optically empty vitreous Chorioretinal hyperpigmentation with peripheral[ncbi.nlm.nih.gov]
Retinal Pigmentation
  • However, both disorders have associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings, which are not found in families with COL2A1-associated Stickler syndrome.[ncbi.nlm.nih.gov]
  • Abstract The characteristic features of Wagner syndrome include myopia, an optically empty vitreous, preretinal membranes, perivascular retinal pigment epithelial changes, vascular sheathing, cataracts, and atrophy of the choriocapillaris.[link.springer.com]
  • Montage color fundus photo of the right eye (A) shows vascular attenuation, retinal pigment epithelium (RPE) atrophy, and a vitreous veil (arrows).[healio.com]
  • 69 Cataract extraction at 45 y Optically empty ODS No Extensive chorioretinal atrophy with sparing of macular area, retinal pigmentations, ectopic macula (ODS) No W95-124P2 (M) c.4004-5T C 34 72 Afakia (lens extraction) at 51 y Optically empty, vitreous[iovs.arvojournals.org]
Night Blindness
  • These clinical entities are usually associated with night blindness and visual field constriction.[ncbi.nlm.nih.gov]
  • Affected individuals may also experience nearsightedness ( myopia ), progressive night blindness, or a narrowing of their field of vision.[ghr.nlm.nih.gov]
  • blindness of variable degree associated with progressive chorioretinal atrophy * Retinal traction and detachment at advanced stages of the disease * Reduced visual acuity resulting from the above manifestations * Absence of systemic abnormalities Not[flipper.diff.org]
  • However, other clinical manifestations have been described in patients with WS, including retinal detachment, myopia, presenile cataract, night blindness with progressive chorioretinal atrophy, extensive retinal pigment clumping, ectopic foveae, inverted[molvis.org]
  • Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990; 110 : 124–134. 20. Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.[nature.com]
Visual Field Constriction
  • The disease has a juvenile onset with progressive nyctalopia and visual field constriction. Presenile cataract is a frequent cause of reduced central visual acuity.[orpha.net]
  • These clinical entities are usually associated with night blindness and visual field constriction.[ncbi.nlm.nih.gov]
Anterior Uveitis
  • Uveitis was reported in a French [ Brézin et al 2011 ] and a British [ Meredith et al 2007 ] family as spontaneous anterior uveitis, and otherwise unexplained severe and prolonged intraocular inflammation after uneventful cataract surgery, respectively[ncbi.nlm.nih.gov]
Visual Acuity Decreased
  • The patient presented with mild visual acuity decrease and nyctalopia. Observation revealed low myopia and mild cortical cataracts.[aao.org]

Workup

  • The patient had a history of treatment for intermediate uveitis with CME OU with a negative workup. He subsequently developed a cataract OS, which was extracted. He had also undergone vitrectomy OU in an attempt to relieve the macular edema.[healio.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Treatment Treatment includes medication and procedure advised by an opthalmologists, audiologists and rheumatologists.[medigest.uk]
  • What Treatment Options Are Available? Laser surgery and the use of anti-inflammatory medications are the most common treatment options.[wagnerretina.com]
  • Typical treatments include: Non-surgical treatments such as at-home periodontal trays, and scaling and root planing (deep cleaning) Periodontal surgery and laser gum surgery Dental implants Preventing Gum Disease Regular dental checkups and periodontal[wagnerfamilydds.com]
  • If you suspect conjunctivitis, visit your eye care provider at Wagner Eye Care Center for an examination and treatment.[visionsource-wagnereyecare.com]

Prognosis

  • Prognosis Overall prognosis seems to be moderate. In the original pedigree described by Wagner, about 50% of the affected members retained a useful vision of more than 20/40 after the age of 60.[orpha.net]
  • Retinal detachment is the major complication of this syndrome, but it tends to have a better prognosis than those associated with Stickler syndrome.[aao.org]
  • Diagnosis and Prognosis: This condition can be diagnosed by an ophthalmologist by examination of the eye. An ERG or electroretinogram can be helpful to the diagnosis.[disorders.eyes.arizona.edu]
  • Patients should discuss their individual case with a mesothelioma specialist to better understand their prognosis. Prognosis How a disease will progress. A prognosis can be good or bad and may have a survival time estimate.[mesothelioma.com]
  • Prognosis The overall prognosis in GPA depends on the severity of the disease and the amount of damage that has been done to organs, especially the kidneys, when the disease was active.[vasculitis.org.uk]

Etiology

  • Etiology Wagner disease is a connective tissue disorder affecting the collagen and is associated with mutations in the CSPG2 or VCAN gene (5q13-q14). CSPG2 encodes chondroitin sulfate proteoglycan-2, also known as versican.[orpha.net]
  • An estimated 0.5 1% of the world population is epileptic, some with completely unknown etiology and no effective treatment.[cidpusa.org]
  • During a trip to the Eastern Shore to hunt for a retirement property, the patient had been bitten by a tick that transmitted the etiologic agent of human monocytic ehrlichiosis, shown below.[hopkinsarthritis.org]

Epidemiology

  • Summary Epidemiology About 100 patients with Wagner syndrome from only a few pedigrees have been described in the literature.[orpha.net]
  • He is a member of the Institute of Medicine and serves on the editorial boards of the British Medical Journal and the Journal of Clinical Epidemiology. Dr.[scienceandsociety.net]
  • EPIDEMIOLOGY About 100 patients with Wagner syndrome from only a few pedigrees have been described in the literature.[flipper.diff.org]
  • I am trained in risk prediction modeling, obesity and cardiovascular epidemiology and advanced longitudinal statistical analyses.[medicine.northwestern.edu]
  • Wagner has a Ph.D. in Epidemiology from the Johns Hopkins Bloomberg School of Public Health, a M.S. in Technology and Policy from MIT, and a Sc.B. in Neuroscience and Behavior from Brown University.[cdc.gov]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology and management Sequence variants in versican ( CSPG2 ) have been reported for the original Wagner family, a Japanese family, three Dutch families, and a British family. 32, 37, 38, 39 These sequence variants occurred at or near the 3′-[nature.com]
  • Genetics and pathophysiology of granulomatosis with polyangiitis (GPA) and its main autoantigen proteinase 3. Mol Cell Probes. 2016;30:366-373. Stone JH, Merkel PA, Spiera R, et al. Rituximab versus cyclophosphamide for ANCA-associated vasculitis.[rarediseases.org]

Prevention

  • Can It Be Prevented? Diabetic eye disease may not be able to be completely prevented, but it can be controlled.[wagnerretina.com]
  • Gum Disease and Its Prevention Good oral hygiene is important for many reasons, including the prevention of gum disease. Gum disease is caused by plaque and has three stages. The first stage is known as gingivitis.[wagner.buchefoods.com]
  • In the healthy vitreous, glycosaminoglycan-rich versican isoforms prevent clumping of collagen fibrills. Splicing defects in Wagner disease lead to drastic over expression of variant V2 carrying reduced attachment site for glycosamino glycans.[medmolgen.uzh.ch]
  • Typical treatments include: Non-surgical treatments such as at-home periodontal trays, and scaling and root planing (deep cleaning) Periodontal surgery and laser gum surgery Dental implants Preventing Gum Disease Regular dental checkups and periodontal[wagnerfamilydds.com]
  • Other medicines sometimes used for the condition include bisphosphonate to prevent bone loss caused by prednisone, folic acid to combat side-effects of methotrexate and trimethoprim/sulfamethoxazole to prevent lung infections.[arthritis.org]

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